1144[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 144230	GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1	ALPG, ALPI +38 more	Copy number loss	See cases	GPathogenic
Select item 154539	GRCh38/hg38 2q37.1(chr2:232376206-232542668)x3	ALPG, ALPI +8 more	Copy number gain	See cases	GBenign
Select item 221380	GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1	ALPG, ALPI +6 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 673973	NM_000751.2(CHRND):c.-394T>G	CHRND	Single nucleotide variant	not provided	GLikely benign
Select item 1247861	NC_000002.12:g.232525995C>T	CHRND	Single nucleotide variant	not provided	GBenign
Select item 534541	NC_000002.11:g.(?_233390906)_(233410446_?)dup	CHRND, CHRNG +2 more	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 1492568	NM_000751.3(CHRND):c.2T>C (p.Met1Thr)	CHRND (M1T)	Single nucleotide variant (missense variant +2 more)	Lethal multiple pterygium syndrome	GPathogenic
Select item 1050769	NM_000751.3(CHRND):c.8G>C (p.Gly3Ala)	CHRND (G3A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128757	NM_000751.3(CHRND):c.12A>G (p.Pro4=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome +2 more	GBenign
Select item 2719528	NM_000751.3(CHRND):c.13G>T (p.Val5Leu)	CHRND (V5L)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 1012687	NM_000751.3(CHRND):c.19A>C (p.Thr7Pro)	CHRND (T7P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1142332	NM_000751.3(CHRND):c.27G>T (p.Gly9=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 707518	NM_000751.3(CHRND):c.27G>C (p.Gly9=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2109504	NM_000751.3(CHRND):c.29T>C (p.Leu10Pro)	CHRND (L10P)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 756609	NM_000751.3(CHRND):c.31C>T (p.Leu11=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 1035109	NM_000751.3(CHRND):c.34G>A (p.Ala12Thr)	CHRND (A12T)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2843903	NM_000751.3(CHRND):c.36del (p.Ala13fs)	CHRND (A13fs)	Deletion (frameshift variant +1 more)	Lethal multiple pterygium syndrome	GPathogenic
Select item 2895475	NM_000751.3(CHRND):c.41T>G (p.Leu14Arg)	CHRND (L14R)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 1572007	NM_000751.3(CHRND):c.42G>C (p.Leu14=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 193123	NM_000751.3(CHRND):c.44C>T (p.Ala15Val)	CHRND (A15V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 466194	NM_000751.3(CHRND):c.45G>A (p.Ala15=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1687227	NM_000751.3(CHRND):c.52+1G>A	CHRND	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 3B	GLikely pathogenic
Select item 1382396	NM_000751.3(CHRND):c.52+6G>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 898685	NM_000751.3(CHRND):c.52+7G>A	CHRND	Single nucleotide variant (intron variant)	CHRND-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2158897	NM_000751.3(CHRND):c.52+15C>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2892185	NM_000751.3(CHRND):c.52+18C>G	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 1944356	NM_000751.3(CHRND):c.52+18C>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 1643030	NM_000751.3(CHRND):c.53-16C>T	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2799365	NM_000751.3(CHRND):c.53-15G>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2169508	NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)	CHRND (W20*)	Single nucleotide variant (nonsense +1 more)	Lethal multiple pterygium syndrome	GPathogenic
Select item 1351399	NM_000751.3(CHRND):c.68A>T (p.Asn23Ile)	CHRND (N23I)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 1532646	NM_000751.3(CHRND):c.70G>A (p.Glu24Lys)	CHRND (E24K)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2440041	NM_000751.3(CHRND):c.72G>C (p.Glu24Asp)	CHRND (E24D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 242639	NM_000751.2:c.73G>T	CHRND (E25*)	Single nucleotide variant (nonsense +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2197340	NM_000751.3(CHRND):c.79C>T (p.Arg27Trp)	CHRND (R27W)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 1417728	NM_000751.3(CHRND):c.80G>A (p.Arg27Gln)	CHRND (R27Q)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 3B +1 more	GUncertain significance
Select item 1102862	NM_000751.3(CHRND):c.84G>A (p.Leu28=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 1075530	NM_000751.3(CHRND):c.88del (p.Arg30fs)	CHRND (R30fs)	Deletion (frameshift variant +1 more)	Lethal multiple pterygium syndrome	GPathogenic
Select item 466197	NM_000751.3(CHRND):c.88C>T (p.Arg30Trp)	CHRND (R30W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 425256	NM_000751.3(CHRND):c.89G>A (p.Arg30Gln)	CHRND (R30Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2440038	NM_000751.3(CHRND):c.95T>C (p.Leu32Pro)	CHRND (L32P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 793977	NM_000751.3(CHRND):c.96G>T (p.Leu32=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 1000042	NM_000751.3(CHRND):c.102A>C (p.Gln34His)	CHRND (Q34H)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2786237	NM_000751.3(CHRND):c.107A>G (p.Lys36Arg)	CHRND (K36R)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 1564888	NM_000751.3(CHRND):c.108G>A (p.Lys36=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 195100	NM_000751.3(CHRND):c.117C>G (p.Asn39Lys)	CHRND (N39K)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome +3 more	GBenign
Select item 1359430	NM_000751.3(CHRND):c.118A>G (p.Lys40Glu)	CHRND (K40E)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 128756	NM_000751.3(CHRND):c.120G>A (p.Lys40=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome +2 more	GBenign
Select item 420109	NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)	CHRND (R43W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 650661	NM_000751.3(CHRND):c.128G>A (p.Arg43Gln)	CHRND (R43Q)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 750895	NM_000751.3(CHRND):c.129G>A (p.Arg43=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 767409	NM_000751.3(CHRND):c.132C>G (p.Pro44=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome +3 more	GLikely benign
Select item 706769	NM_000751.3(CHRND):c.132C>T (p.Pro44=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 1049865	NM_000751.3(CHRND):c.133G>A (p.Val45Met)	CHRND (V45M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426311	NM_000751.3(CHRND):c.136G>A (p.Ala46Thr)	CHRND (A46T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2199246	NM_000751.3(CHRND):c.140A>T (p.His47Leu)	CHRND (H47L)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 895704	NM_000751.3(CHRND):c.145G>A (p.Glu49Lys)	CHRND (E49K)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 3144671	NM_000751.3(CHRND):c.146A>C (p.Glu49Ala)	CHRND (E49A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2043964	NM_000751.3(CHRND):c.148G>A (p.Glu50Lys)	CHRND (E50K)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 421608	NM_000751.3(CHRND):c.154G>A (p.Val52Met)	CHRND (V52M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1416365	NM_000751.3(CHRND):c.155T>A (p.Val52Glu)	CHRND (V52E)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2195901	NM_000751.3(CHRND):c.158A>G (p.Asp53Gly)	CHRND (D53G)	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 705433	NM_000751.3(CHRND):c.159C>T (p.Asp53=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 955925	NM_000751.3(CHRND):c.160G>A (p.Val54Ile)	CHRND (V54I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 466191	NM_000751.3(CHRND):c.167T>C (p.Leu56Pro)	CHRND (L56P)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2899436	NM_000751.3(CHRND):c.170C>T (p.Ala57Val)	CHRND (A57V)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 895705	NM_000751.3(CHRND):c.172C>T (p.Leu58Phe)	CHRND (L58F)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 2197860	NM_000751.3(CHRND):c.174C>A (p.Leu58=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 1391232	NM_000751.3(CHRND):c.178C>A (p.Leu60Ile)	CHRND (L60I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 835510	NM_000751.3(CHRND):c.178C>G (p.Leu60Val)	CHRND (L60V)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2148308	NM_000751.3(CHRND):c.180C>T (p.Leu60=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 1428292	NM_000751.3(CHRND):c.187C>A (p.Leu63Ile)	CHRND (L63I)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 18371	NM_000751.3(CHRND):c.188T>C (p.Leu63Pro)	CHRND (L63P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 3B	GPathogenic
Select item 1108899	NM_000751.3(CHRND):c.198+7G>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2727195	NM_000751.3(CHRND):c.198+12_198+13insA	CHRND	Insertion (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2156734	NM_000751.3(CHRND):c.198+13C>G	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 256780	NM_000751.3(CHRND):c.198+14C>T	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 507793	NM_000751.3(CHRND):c.198+15G>A	CHRND	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 680135	NM_000751.3(CHRND):c.198+79A>G	CHRND	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268871	NM_000751.3(CHRND):c.199-230G>C	CHRND	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282580	NM_000751.3(CHRND):c.199-146A>G	CHRND	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201950	NM_000751.3(CHRND):c.199-90dup	CHRND	Duplication (intron variant)	not provided	GLikely benign
Select item 1193375	NM_000751.3(CHRND):c.199-91_199-90dup	CHRND	Duplication (intron variant)	not provided	GLikely benign
Select item 1271538	NM_000751.3(CHRND):c.199-90_199-89insAAGAGA	CHRND	Insertion (intron variant)	not provided	GBenign
Select item 1253312	NM_000751.3(CHRND):c.199-90AG[13]	CHRND	Microsatellite (intron variant)	not provided	GBenign
Select item 1186198	NM_000751.3(CHRND):c.199-90AG[16]	CHRND	Microsatellite (intron variant)	not provided	GLikely benign
Select item 801909	NM_000751.3(CHRND):c.199-90_199-89insAAGA	CHRND	Insertion (intron variant)	not provided +1 more	GBenign

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